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Items: 1 to 20 of 98

1.

Longevity and Patau syndrome: what determines survival?

Peroos S, Forsythe E, Pugh JH, Arthur-Farraj P, Hodes D.

BMJ Case Rep. 2012 Dec 6;2012. pii: bcr0620114381. doi: 10.1136/bcr-06-2011-4381.

2.

A patient with trisomy 13 mosaicism with an unusual skin pigmentary pattern and prolonged survival.

González-del Angel A, Estandia-Ortega B, Gaviño-Vergara A, Sáez-de-Ocariz M, Velasco-Hernández Mde L, Salas-Labadía C.

Pediatr Dermatol. 2014 Sep-Oct;31(5):580-3. doi: 10.1111/pde.12339. Epub 2014 May 20.

PMID:
24846410
3.

Primary congenital glaucoma associated with Patau syndrome with long survival.

Jaru-Ampornpan P, Kuchtey J, Dev VG, Kuchtey R.

J Pediatr Ophthalmol Strabismus. 2010 Jun 23;47 Online:e1-4. doi: 10.3928/01913913-20100618-09.

PMID:
21080618
4.

Clinical features and prognosis of a sample of patients with trisomy 13 (Patau syndrome) from Brazil.

Petry P, Polli JB, Mattos VF, Rosa RC, Zen PR, Graziadio C, Paskulin GA, Rosa RF.

Am J Med Genet A. 2013 Jun;161A(6):1278-83. doi: 10.1002/ajmg.a.35863. Epub 2013 Apr 23.

PMID:
23613355
5.

Patau syndrome with long survival in a case of unusual mosaic trisomy 13.

Fogu G, Maserati E, Cambosu F, Moro MA, Poddie F, Soro G, Bandiera P, Serra G, Tusacciu G, Sanna G, Mazzarello V, Montella A.

Eur J Med Genet. 2008 Jul-Aug;51(4):303-14. doi: 10.1016/j.ejmg.2008.03.004. Epub 2008 Apr 9.

PMID:
18495567
6.

[Mosaic trisomy 13].

Cammarata-Scalisi F, Araque D, Lacruz-Rengel MA, Valera-Ruíz B.

An Pediatr (Barc). 2013 Dec;79(6):402-3. doi: 10.1016/j.anpedi.2013.03.016. Epub 2013 May 15. Spanish. No abstract available.

7.

Cutaneous manifestations in trisomy 13 mosaicism: A rare case and review of the literature.

Wieser I, Wohlmuth C, Rittinger O, Fischer T, Wertaschnigg D.

Am J Med Genet A. 2015 Oct;167A(10):2294-9. doi: 10.1002/ajmg.a.37145. Epub 2015 May 5. Review.

PMID:
25943247
8.

Mosaic trisomy 13: understanding origin using SNP array.

Jinawath N, Zambrano R, Wohler E, Palmquist MK, Hoover-Fong J, Hamosh A, Batista DA.

J Med Genet. 2011 May;48(5):323-6. doi: 10.1136/jmg.2010.083931. Epub 2010 Nov 19.

PMID:
21097773
9.

A girl with metopic synostosis and trisomy 13 mosaicism: case report and review of the literature.

Aypar E, Yildirim MS, Sert A, Ciftci I, Odabas D.

Am J Med Genet A. 2011 Mar;155A(3):638-41. doi: 10.1002/ajmg.a.33839. Epub 2011 Feb 22. Review.

PMID:
21344634
10.

Autopsy report of a 7-year old patient with the mosaic trisomy 13.

Imataka G, Yamanouchi H, Hirato J, Eguchi M, Kojima M, Honma K, Arisaka O.

Cell Biochem Biophys. 2013 Nov;67(2):813-7. doi: 10.1007/s12013-013-9567-y.

11.

Variable expressivity in Patau syndrome is not all related to trisomy 13 mosaicism.

Hsu HF, Hou JW.

Am J Med Genet A. 2007 Aug 1;143A(15):1739-48.

PMID:
17603803
12.

Are all cases of low-grade mosaic trisomy 13 in amniotic fluid with no fetal malformation in fact confined placental mosaicism? A case report.

Etoubleau C, Bourthoumieu S, Fiorenza M, Aubard V, Yardin C.

Morphologie. 2011 Dec;95(311):142-5. doi: 10.1016/j.morpho.2011.07.117. Epub 2011 Nov 10.

PMID:
22079601
13.

Overlap of Patau and Pierre Robin syndromes along with abnormal metabolism: an interesting case study.

Jaiswal SK, Sukla KK, Gupta V, Rai AK.

J Genet. 2014 Dec;93(3):865-8. No abstract available.

14.

An interesting coexistence of Patau syndrome; Spigelian hernia and undescended testes.

Demir N, Tuncer O, Peker E, Bilici S, Yavuz A.

Genet Couns. 2014;25(2):241-4. No abstract available.

PMID:
25059026
15.

Phenotypic variability in Patau syndrome.

Caba L, Rusu C, Butnariu L, Panzaru M, Braha E, Volosciuc M, Popescu R, Gramescu M, Bujoran C, Martiniuc V, Covic M, Gorduza EV.

Rev Med Chir Soc Med Nat Iasi. 2013 Apr-Jun;117(2):321-7.

PMID:
24340511
16.

Prenatal diagnosis and molecular cytogenetic characterization of a mosaic derivative Y chromosome derived from a de novo unbalanced reciprocal Yq;13q translocation.

Chen CP, Su YN, Chen M, Huang JP, Tsai FJ, Wu PC, Chen WL, Wang W.

Taiwan J Obstet Gynecol. 2011 Sep;50(3):394-8. doi: 10.1016/j.tjog.2011.07.012. No abstract available.

17.

Maternal origin of 47,XXY and confined placental mosaicism 47,XXY/48,XXY,+13 in an infant conceived through IVF.

Wu EX, Wilson AD, Wong EC, Havelock JC, Ma S.

J Assist Reprod Genet. 2013 Jun;30(6):807-12. doi: 10.1007/s10815-013-0001-6. Epub 2013 Apr 27. No abstract available.

18.

Hyperinsulinemic hypoglycemia in a newborn infant with trisomy 13.

Tamame T, Hori N, Homma H, Yoshida R, Inokuchi M, Kosaki K, Takahashi T, Hasegawa T.

Am J Med Genet A. 2004 Sep 1;129A(3):321-2. No abstract available.

PMID:
15326637
19.

Survival of trisomy 18 (Edwards syndrome) and trisomy 13 (Patau Syndrome) in England and Wales: 2004-2011.

Wu J, Springett A, Morris JK.

Am J Med Genet A. 2013 Oct;161A(10):2512-8. doi: 10.1002/ajmg.a.36127. Epub 2013 Aug 15.

PMID:
23949924
20.

Trisomy 13 (Patau syndrome) with an 11-year survival.

Zoll B, Wolf J, Lensing-Hebben D, Pruggmayer M, Thorpe B.

Clin Genet. 1993 Jan;43(1):46-50. Review.

PMID:
8462196

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